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encephalomyopathy
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Mitochondrial encephalomyopathy
2003 |
First Faculty of Medicine
publication
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) - a case report of the rare diasease with radiological findings
2010 |
First Faculty of Medicine
publication
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
2006 |
Second Faculty of Medicine
publication
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
2006 |
First Faculty of Medicine
publication
Dichloroacetate treatment in children with mitochondrial encephalomyopathy.
1998 |
Faculty of Physical Education and Sport
publication
Mitochondrial Neurogastrointestinal Encephalomyopathy Imitating Crohn's Disease: A Rare Cause of Malnutrition
2018 |
Publication without faculty affiliation
publication
Novel mtDNA mutation 920delAT in family with ATPase deficiency and mitochondrial encephalomyopathy
Publication without faculty affiliation
publication
Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control
2021 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Science
publication
Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports
2010 |
First Faculty of Medicine
publication
Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports
2010 |
Second Faculty of Medicine
publication
Altered properties of mitochondrial ATP-synthase in patients with a T --> G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA
1995 |
First Faculty of Medicine
publication
Mitochondrial diabetes in common clinical practice
2020 |
Third Faculty of Medicine
publication
Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder
2013 |
First Faculty of Medicine
publication
Mitochondrial genome in health and disease
Publication without faculty affiliation
publication
The MELAS syndrome - a case report
2000 |
First Faculty of Medicine
publication
Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2bp microdeletion of TA at positions 9205 and 9206
2004 |
First Faculty of Medicine